Jeff Binder R.T. (R)
Condition
Brittle
Melorheostosis
Osteopetrosis
X
Osteopoikilosis
Progressive
Diaphyseal
Dysplasia (PDD)
Pyknodysotosis
Osteogensis
Imperfecta
X
X
Sclerosing
X
X
X
X
X
Achondroplasia
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Squared off pelvis
Champaign glass pelvis (caused by anterior pelvic tilt)
Squared scapula
Widest pedicle spacing at L1 tapering to smallest spacing at L5
(reverse from normal)
Rhizomelia: “short root”, Single long bones (humerus, femur) are short
but normal diameter
Bullet nose vertebra: rounded front of vertebrae by defective
development of growth plate
Scalloped posterior vertebra: caused by dural ectasia
Canal stenosis: 3rd decade
DJD: 3rd decade
Trident hand: separation of 3rd and 4th fingers
Hyperlordotic lumbar spine
Small foramen magnum: MOST LETHAL ASPECT
Osteopetrosis
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“BONE WITHIN A BONE”
Fetal bone (primordial) never retreats
“chalk bone” appearance (very dense on film)
Erlenmeyer flask deformity: flared metaphysis of long bones
Dental caries and abscess formation associated
Sandwich vertebra (also called rugger jersey)
Anemia is the most lethal aspect
 Reduction in red marrow due to decreased medullary
bone
Increased urine Ca levels (only slightly)
abnormal bone scans (increased bone production)
Melorheostosis
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Normal Cortical bone distributed improperly
 Strong bones
Bone grown inside and outside of normal bones
 Only dysplasia that does this
Dripping wax appearance
No anemia
Cortical thickening and wavy appearance
Can cause peripheral nerve entrapment
Osteogenesis Imperfecta
Mucopolysaccharidoses
 Brittle bone disease
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Arachnodactyly: Long finger/toe appearance due to thinner bones
Brachydactyly: short finger/toe appearance due to premature growth plate
closure
Sheppard’s crook deformity: hook like deformity of the femure
Blue sclera: caused by brown choroid visualized through abnormal
Dental problems
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NOT sclerosing
Bluish gray to yellowish brown opalescent teeth
Malformed dentin leading to easy chipping and severe caries
Osteoporosis
Wormian bones: not pathognomonic of OI
Multiple fractures: causes excess callus formation on bones
Biconcave vertebral bodies
Undertubularization: narrow bones
Osteopoikilosis
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Spotty bone disease
 Benign
Asymptomatic
Normal cortical bone growth
Completely within bony margins
 If not within bony margins look for another diagnosis
R/O osteoblastic mets in patients over 50yrs
 Bone scan will be normal in osteopoikilosis; abnormal in
osteoblastic mets (hot spots)
MRI will show a void in signal
 Cortical bone is black on MRI therefore areas of cortical
bone growth are black
Spondyloepiphyseal Dysplasia
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“heaped up vertebra” or “humped shaped vertebra”
 Caused by the non-ossification of the ring epiphysis
 Thin disk spaces
Short vertebral bodies= short stature; Platyspondly
Premature DJD
 Hip and knee invovlement
Subchondral chondrosis
Progressive Diaphyseal Dysplasia
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Engelmann’s Disease
Cortical thickening of long tubular bones
 CORTICAL BONE ADDED ONLY TO THE INTERIOR OF
BONES
Poor muscular development
Increased osteoblastic activity
 Bone scan will show
Fusiform widening of only the Diaphysis
Pyknodysostosis
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Sclerosing and brittle bone disease
Altered craniofacial ratio
 “elfin like features”; small face, normal sized head
Obtuse angle of the jaw
Acroosteolysis: reabsorption of the distal phalanges
Madelung’s deformity
 Bowing and overgrowth of the radius contributing to
abnormal radioulnar articulations
Dental carries with possible osteomyelitis of mandible
Marfan’s Syndrome
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Arachnodactyly: elongation of the fingers without an
increase in width
Lens (eye) dislocation
Aortic aneurysms
45% acquire scoliosis
 Tall thin people
Positive thumb sign
Pectis excavatum: sternum close to the spine “caved in”
1/3 have congenital heart disease
 Atrial septal defect is the most frequent
Failure to produce normal collagen
 Poor quality
Dental carries
Cleidocranial Dysostosis
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Midline structure deformities
 Clavicular hypoplasia
 Pubic symphysis midline deformity
 Spina bifida
 Cleft palate
Wormian bones
 Widening of coronal and saggital sutures “hot cross bun
appearance”
Funnel shaped chest
Hypoplastic and tapered distal phalanges
Biconvex vertebral bodies
Other presentations
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Brachycephaly: “short skull”
 Premature coronal suture closure
 P-A distance decreased
Scaphocephaly: “boat head”
 Premature saggital suture closure
 S-I distance decreased
Synphalagism
 No joints in a finger; finger 1 continuous bone
Syndactyly: “mitten hand”
 No soft tissue separation in the hand
Trichorhinophalangeal
Hair, nose, finger
 Course hair
 Long nose
 Finger abnormalities
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Stippled epiphysis
Fragmented primary ossification center
 Benign
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